Kornimate/medical-research-clean huggingface dataset:
ncgenes: north carolina clinical genomic evaluation by nextgen exome sequencing

Conditions: Cancer; Cardiovascular Disease; Neurologic Dysfunction; Congenital Abnormalities; Hearing Loss

Summary: this study is part of a larger consortium project investigating the validity and best use of next-generation sequencing (in particular, whole exome sequencing, or wes) in clinical care. this sub-project is investigating benefits and harms of providing wes diagnostic and different types of incidental findings to adult patients and parents of pediatric patients who undergo wes because they have symptoms suggesting genetic disease.

this study is part of a larger consortium project investigating the validity and best use of next-generation sequencing (in particular, whole exome sequencing, or wes) in clinical care. participants are patients who were either seen in the university of north carolina cancer and adult genetics clinic or referred to the study by their physician. they will be approached by their physician or a genetic counselor for recruitment. once enrolled, a clinical geneticist or genetic counselor will obtain consent and collect blood samples to be analyzed using wes. results may include information related to a diagnosis and incidental information. medically actionable incidental findings will be clia (clinical laboratory improvement amendments)-certified and returned to participants in a routine genetic counseling session, along with diagnostic findings. eligible adult participants will be randomized to have the opportunity to choose to get certain types of non-medically actionable incidental findings, as well. their decisions will be investigated, as will psychosocial and behavioral responses to sequencing and receiving sequencing information. this is a longitudinal, mixed methods study (i.e., multiple assessments pre- and post-return of results, with both quantitative and qualitative methods used to gather data). because only the quantitative component of the study uses randomization, only measures and procedures associated with that component are described here.

Eligibility criteria:
- to receive whole exome sequencing in the study, adult or child patients must have a significant chance of having a genetic disorder, as determined by experts on the study team using criteria that depend on the genetic disorder in question. representative criteria are listed below and will be considered together to determine whether patterns indicate a likely genetic etiology. cancer * age of diagnosis * presence of bilateral (or multiple) cancers * diagnosis of a rare type of cancer * details of the family history cardiovascular conditions * certain clinical findings, such as prolonged qt interval on electrocardiogram. * presence of hypertrophic cardiomyopathy or aortic aneurysm * age of diagnosis * presence of family history pediatric neurodevelopmental disorders * specific brain structural brain abnormalities * presence of certain seizure types * dysmorphic features

Keywords: cancer cardiovascular disease neurodegenerative disease neurodevelopmental disease dysmorphology hearing loss other conditions, including ophthalmic conditions
midazolam versus dexamethasone as an adjuvant to local anesthetics in the ultrasound guided hydrodissection of median nerve for treatment of carpal tunnel syndrome patients

Conditions: Pain Syndrome

Summary: midazolam and dexamethasone both can counteract chronic pain. either via gaba mimetic action or via anti prostaglandins

entrapement syndrome - namely median nerve compression in carpal tunnel syndrome - causes chronic pain that can be refractory to medical treatment . ultrasound guided hydrodissection is an option for alleviating pain . recurrence is the main side effect of injection. we try in this research to prevent recurrence rate . midazolam and dexamethasone both are used in chronic pain . midazolm act by gaba mimetic action while dexamethasone act by decrease interleukin formation

Eligibility criteria:
inclusion criteria: * numbness or pain in the nerve distribution, nerve conduction studies (ncs) corresponding with aanem guidelines * nerve cross sectional area \>12mm2 exclusion criteria: * refusal to participate * history of operation in median nerve.were patient refusal to participate, pain recurrence after previous injection and severe symptoms requiring surgical release, diabetic patients

Keywords: midazolam median nerve dexamethasone
the role of early rehabilitation in improving stroke systems of care

Conditions: Cerebrovascular Disorders

Summary: 1. to assess the effect of implementing stroke early rehabilitation using telemedicine if avialable in the stroke unit of the neurology department , assuit university hospitalis , egypt. 2. importance and impact of this programme on function and quality of life after stroke

in this case control study,we will analyzed patients admitted to neurology depatment in assuit university hospitals from 1/2023 until 1/2024 and divide them in two groups , group receive early rehabilitation services with the personnel get tele-rehab training and the other group get training with the usual pathway in the hospital by other personnel, and we could follow up the two groups for 3 months and comparing both groups .

Eligibility criteria:
inclusion criteria: 1. mild to moderate stroke patients (ischemic or hemorrhagic) admitted to auh within 24 hour after admission. 2. all age groups . 3. both sex. 4. group receive rehab services with the personnel get tele-rehab training and the other group get training with the usual pathway in the hospital by other personnel, and we could follow up the two groups for 3 months and comparing both groups . exclusion criteria: severe stroke. * stroke mimmics . * pregnancy. * stroke with severe hepatic ,renal and pulmonary diseases limiting or affecting early rehabilitation .
melatonin in adults with sms

Conditions: Smith Magenis Syndrome

Summary: sleep-wake and behavioral disorders in smith magenis syndrome (sms) are strongly linked to an inversion of the nychtemeral secretion of melatonin. this inversion have been described in children with sms. however its evolution during adulthood remains unknown. the aim of this study is to assess 24hours melatonin levels in 10 adults with sms in order to optimize medication in adults with sms

sms is one of the rare syndromes in which the inversion of melatonin secretion is regular, which is an exceptional situation for the study of the influence of genetic factors on the regulation of sleep / wake rhythm. recently, point mutations of the rai1 gene (retinoic acid induced 1) have been identified in individuals with the clinical features of sms with a reversal of the secretion rate of melatonin ,highlighting the role of rai1 in sms sleep disorders. daytime secretion of melatonin is associated with significant drowsiness and plays a major role in diurnal behavior disorders, especially in younger people. conversely, the absence of nocturnal melatonin is a causal factor in the shortening and fragmentation of nocturnal sleep . basically, little is known about the mechanisms that explain the inversion of the secretion rate of melatonin in sms. these aspects, and in particular the nycthemeral reversal of the melatonin cycle, have been described in a population of children and we do not know how these disturbances evolve in adulthood

Eligibility criteria:
inclusion criteria: * patient with smith magenis syndrome aged 18 years or older * subject or guardian having signed the consent exclusion criteria: * pregnant women * minor subject * diagnosis of smith magenis syndrome not certain * taking benzodiazepines or related substances * taking betablockers * major behavioral disorders versus indicating participation in this study
processing integration in neurological patients using fmri

Conditions: Acute Inflammatory Demyelinating Polyradiculoneuropathy; Stroke; Anosognosia; Central and Peripheral Neurodegenerative Pathologies; Neuropsychiatric Conditions

Summary: the main objective of the study is to explore and map brain areas involved in processing and perception in patients suffering from neurological pathologies and condition. the investigators hypothesize for example, that a change (compare to healthy subjects) in the perceptual maps and body representation could be detected and characterize in patients suffering from impairments of peripheral nerve conduction.


Eligibility criteria:
inclusion criteria: * diagnosis of the investigated neuronal disease exclusion criteria: * contraindication for mri scan * pregnancy * refusal to participate in the study
factors related to functional recovery using brain imaging of stroke patients

Conditions: Stroke

Summary: in this study, brain imaging predictive factors related to motor recovery will be investigated. lastly, the prediction model will be established.


Eligibility criteria:
inclusion criteria: * adults more than 19 years * first-ever unilateral stroke * ischemic subacute stroke patients exclusion criteria: * major active neurological disease or psychiatric disease * metallic implants in their brain * hemorrhagic stroke * bilateral lesions * recurrent stroke
everlinq endovascular access system enhancements (ease) study

Conditions: Chronic Kidney Diseases

Summary: prospective, single-center study to evaluate the everlinq system when used to create an endoavf in hemodialysis patients.

a total of up to 50 subjects will be enrolled and will undergo an endoavf creation procedure using the everlinq system. all subjects will be followed for up to 12 months post index procedure based on investigator's discretion.

Eligibility criteria:
inclusion criteria: 1. eligible for a native arteriovenous fistula. 2. adult (age \>18 years old). 3. established, non-reversible kidney failure requiring hemodialysis (including pre-dialysis patients). 4. target vein diameter(s) ≥ 2.0 mm or large enough to accommodate device diameter. 5. target artery diameter ≥ 2.0 mm or large enough to accommodate device diameter. 6. estimated life expectancy \> 1 year. 7. patient is free of clinically significant conditions or illness within 30 days prior to the av fistula that may compromise the procedure exclusion criteria: 1. known central venous stenosis or central vein narrowing \> 50% based on imaging on the same side as the planned avf creation. 2. upper extremity venous occlusion(s) and/or vessel abnormality(ies) on the same side as the planned avf creation that precludes endovascular avf creation by everlinq system as deemed by the interventionalists' clinical judgment. 3. prior surgically created access in the planned treatment location. 4. functioning surgical access in the planned treatment arm. 5. pregnant women. 6. new york heart association (nyha) class iii or iv heart failure. 7. hypercoagulable state. 8. known bleeding diathesis. 9. immunosuppression, defined as use of immunosuppressive medications used to treat an active condition. 10. documented history of drug abuse including intravenous drugs within six months of avf creation. 11. "planned" concomitant major surgical procedure within 6 months of enrollment or previous major surgery within 30 days of enrollment. 12. currently being treated with another investigational device or drug. 13. known allergy to contrast dye which cannot be adequately pre-medicated. cd-0015 rev 02 - ease study clinical protocol confidential page 8 of 16 14. known adverse effects to sedation and/or anesthesia which cannot be adequately pre-medicated. 15. patients who do not have an ulnar or radial artery. 16. at the time of procedure distance between target artery and vein will not allow magnets to align vessels sufficiently to create the fistula. 17. evidence of active infections on the day of the index procedure. 18. written informed consent not obtained.
study on sbrt for inoperable lung and liver oligometastases from breast cancer

Conditions: Breast Cancer; Metastasis to Liver; Metastasis to Lung

Summary: investigators designed a phase ii study to evaluate safety and efficacy of lung and liver stereotactic radiation therapy (srt) in oligometastatic breast cancer patients unsuitable for surgery, using vmat rapidarc approach.

investigators designed a prospective phase ii study to evaluate safety and efficacy of lung and liver stereotactic radiation therapy (srt) scheduled for oligometastatic breast cancer patients unsuitable for surgery with age major than 18 years old and with adequate performance status (ecog), using vmat rapidarc approach. the potential advantage of this technique is the ability to deliver a more selective irradiation to tumour's target while reducing doses to normal tissue, optimizing the therapeutic window.

Eligibility criteria:
inclusion criteria: * patients aged \>18 years with ecog 0-2 * diagnosis of breast cancer * dfi (disease-free interval) \> 1 year * no extrapulmonary and/or extrahepatic disease or other metastatic sites stable or responding after chemotherapy * no life threatening conditions * lung and liver lesions \< 5 (with maximum diameter \< 5 cm) * chemotherapy completed at least 3 weeks before treatment * chemotherapy started at least 2 weeks after treatment allowed * systemic therapies other than chemotherapy allowed (i.e hormonal therapies and/or immunotherapy) * written informed consent exclusion criteria: * ecog \> 2 * pregnant women * patients with inability to consent

Keywords: oligometastatic breast cancer
pilot study of allergy immunotherapy and prevention of viral respiratory infections

Conditions: Allergy; Seasonal Allergic Rhinitis; Perennial Allergic Rhinitis

Summary: the objective of this study is to determine whether there is a relationship between interferon-gamma levels and the incidence of viral respiratory infections in allergic children treated with allergy immunotherapy as compared to those treated with standard medical care (nasal steroids, antihistamines) over a 1-year period. the hypotheses to be tested are 1) interferon-gamma levels will be significantly increased 3, 6, 9 and 12 months in allergic children treated with allergy immunotherapy as compared to those treated with standard medical care, 2) the incidence of viral respiratory infections will be reduced at 3, 6, 9 and 12 months in allergic children treated with allergy immunotherapy as compared to those treated with standard medical care.

this study will consist of five visits. visit 1 will occur after subjects complete an initial clinical evaluation for allergy at this site. subjects will select their treatment (allergy immunotherapy as compared to standard medical care) prior to enrollment in this study. visit 1 will include informed consent, review of inclusion and exclusion criteria and phlebotomy for the determination of serum interferon-gamma levels. at the end of this visit, diary cards to capture the frequency of symptoms of viral respiratory infections will be distributed. visits 2-5 will occur 3, 6, 9 and 12 months after visit 1 and will include review/exchange of diary cards, and phlebotomy for determination of serial serum interferon-gamma levels.

Eligibility criteria:
inclusion criteria: * age 6-18 years of age * history of allergic rhinitis as confirmed by previous allergy skin testing conducted within the past year * subjects assigned to the allergy immunotherapy must be prescribed therapy according to national recommendations using fda-approved allergy extracts supplied by greer laboratories exclusion criteria: * concurrent difficult to control asthma or an underlying immune deficiency

Keywords: allergy seasonal allergic rhinitis perennial allergic rhinitis
arrhythmia genetics in the netherlands

Conditions: Myocardial Infarction First; Ventricular Fibrillation

Summary: the agnes case-control set consists of individuals with a first acute st-elevation myocardial infarction. agnes cases have ecg- registered ventricular fibrillation occurring before reperfusion therapy for an acute and first st-elevation myocardial infarction. agnes controls are individuals with a first acute st-elevation myocardial infarction but without ventricular fibrillation. all cases and controls are recruited at seven heart centers in the netherlands. the investigators' exclude individuals with an actual non-st-elevation myocardial infarction, prior myocardial infarction, congenital heart defects, known structural heart disease, severe comorbidity, electrolyte disturbances, trauma at presentation, recent surgery, previous coronary artery bypass graft or use of class i and iii antiarrhythmic drugs. individuals who develop ventricular fibrillation during or after percutaneous coronary intervention are not eligible. furthermore, because early reperfusion limits the opportunity of developing ventricular fibrillation, potential control subjects undergoing percutaneous coronary intervention within 2 h after onset of myocardial ischemia symptoms were not included. this time interval is based on the observation that \>90% of cases develop ventricular fibrillation within 2 h after onset of the complaint of symptoms.


Eligibility criteria:
inclusion criteria: 1. first st elevation myocardial infarction (stemi) 2. between 18 and 80 years old exclusion criteria: 1. a grandparent from non-european descent 2. inborn errors; congenital heart defects. 3. prior myocardial infarction (either stemi or non-stemi) 4. previous cabg (coronary artery bypass graft) 5. use of anti-arrhythmic drugs with the exception of beta-blockers, ca2+-antagonists and lanoxin. 6. severe current co morbidity (electrolyte disturbances, k+\>5.5, k+\<3.0 mmol/l, anaemia, trauma, surgery).
hepatitis c in adults who underwent congenital heart surgery before screening

Conditions: Congenital Heart Disease

Summary: this is a retrospective chart review. we hypothesize that patients who have undergone congenital heart surgery, prior to screening of blood products have a significant risk of hepatitis c infection and all such patients would benefit from screening for hepatitis c.

the adult congenital clinic at emory hospital routinely screens all patients who have had congenital heart surgery prior to 1992 for hepatitis c antibodies. it is currently not the practice norm for all congenital heart patients to receive hepatitis screening unless they are at a specialized clinic that has implemented a system. the question of hepatitis c serology is particularly important for this population as many of these patients develop heart failure and may require heart transplantation and immunosuppression. this is a retrospective analysis examining the prevalence of hepatitis c in the adult congenital clinic at the emory clinic. the current practice is to screen all adult congenital heart disease patients for hepatitis c. all emory clinic charts reviewed will be of patients who had congenital heart surgery. only information on patients who had surgery prior to 1992 will be used for this study. we will review approximately 1000 charts for this study.

Eligibility criteria:
inclusion criteria: * patients seen at emory adult congenital clinic * patients \> 18 years of age * underwent surgery for congenital heart disease prior to 1992 exclusion criteria: * history of known hepatitis prior to congenital heart surgery * history of intravenous drug abuse

Keywords: hepatic medicine surgery
investigation of the istent inject® devices in open-angle glaucoma

Conditions: Glaucoma, Open-Angle

Summary: the aim of this study is to evaluate the safety and intraocular pressure (iop) lowering effect of two istent inject devices in combination with cataract surgery in patients with mild-to-moderate open-angle glaucoma.

patients suffering from open-angle glaucoma who are planning to undergo cataract surgery and are matching the inclusion criteria will be offered to join the study until the desired sample size (50) is reached. combined cataract-istent surgery will be performed as per the devices' manufacturers' instructions. two istent inject devices will be micro-invasively implanted in the trabecular meshwork of the eye during planned cataract surgery. six post-operative follow-ups will be carried out over a duration of 12 months, during which various measurements will be made. performance outcomes will analyse the proportion of patients with iop reduction of ≥ 20% vs. baseline mean iop, at 6 and 12 months. quality of life outcome will look at the improvement in perceived quality of life as expressed in the nei vfq-25 questionnaires from baseline to 3 and 12 months. the rate of adverse events will be recorded.

Eligibility criteria:
inclusion criteria: * primary open-angle glaucoma, pseudoexfoliative glaucoma, or pigmentary glaucoma * mild to moderate glaucoma (defined as c/d ratio ≤ 0.8) * phakic eye requiring cataract surgery * preoperative iop up to 30 mmhg (medicated or not) * patients with side-effects to, or complications from, medications * patients who would benefit from a reduction of iop and/or reduction of medication * normal angle anatomy as determined by gonioscopy; * absence of peripheral anterior synechiae (pas), rubeosis or other angle abnormalities that could impair proper placement of istent inject device * able and willing to attend scheduled follow-up exams for 12 months postoperatively * able and willing to provide written informed consent on the approved informed consent form exclusion criteria: * inclusion of the fellow eye in this study (only one eye per subject) * aphakic patients or pseudophakic patients * prior stent implantations in the study eye * eyes with primary angle closure glaucoma, or any secondary angle closure glaucoma * traumatic or uveitic glaucoma; or any glaucoma associated with vascular disorders * patients with any type of condition that may cause elevated episcleral venous pressure * functionally significant visual field loss, including severe nerve fiber bundle defects such as bjerrum scotoma * prior glaucoma treatment (laser or surgery) * any active corneal inflammation, edema, or opacity severe-enough to impair gonioscopy / fundus examination * any pathology for which, in the investigator's judgment, the following would be either at risk or contraindicated: * stent implantation, * compliance to elements of the study protocol.

Keywords: glaucoma minimally invasive glaucoma surgery
long-term efficacy and safety research of left bundle branch pacing

Conditions: Atrioventricular Block; Left Bundle Branch Pacing

Summary: patients with successful left bundle branch pacing in our center were included in this study from april 2018 to december 2019. baseline data was collected, and pacing parameters, ecg and echocardiographic results were analyzed during 3 years follow-up. according to whether or not a potential was recorded and the specific potential characteristics at implantation, the patients were divided into 3 groups: left bundle branch potential group; purkinje potential group; and no-potential group. during the 3 years follow-up, the investigators collected the ecg、ucg and pacemaker parameters to analyze.

a total of 136 patients with a high percentage of ventricular pacing and successful left bundle branch pacing were included in this study from april 2018 to december 2019. baseline data was collected, and pacing parameters, ecg and echocardiographic results were analyzed during 3 years follow-up. according to whether or not a potential was recorded and the specific potential characteristics at implantation, the patients were divided into 3 groups: left bundle branch potential group (l group) 31.6%; purkinje potential group (p group) 10.3%; and no-potential group (n group) 58.1%. during the 3 years follow-up, the investigators collected the ecg、ucg and pacemaker parameters to analyze.

Eligibility criteria:
inclusion criteria: * patients who were predicted to require a high percentage of ventricular pacing in our center were enrolled in this study exclusion criteria: * low rate of pacing, and loss to follow-up